Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 2 | 240594824 | intron variant | -/CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 19 | 41355432 | intron variant | -/CTC;CTCATGTCCCTGCCCTCCCTCCTC | delins | 0.70 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 17 | 43125988 | intron variant | -/GTT | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 5 | 69168280 | frameshift variant | -/T | ins | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 0.827 | 0.200 | 2 | 43411699 | intron variant | A/C | snv | 0.14 | 0.890 | 0.800 | 10 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.120 | 12 | 65830681 | intron variant | A/C | snv | 2.1E-02 | 0.810 | 1.000 | 2 | 2012 | 2018 | ||||
|
3 | 0.882 | 0.160 | 19 | 7182952 | intron variant | A/C | snv | 0.25 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 15 | 66458277 | intron variant | A/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.790 | 0.360 | 6 | 160249250 | missense variant | A/C | snv | 0.90 | 0.89 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.280 | 1 | 9245386 | missense variant | A/C | snv | 0.12 | 0.10 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.807 | 0.280 | 6 | 160139813 | missense variant | A/C;G | snv | 5.3E-05; 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.060 | 1.000 | 6 | 2010 | 2019 | ||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.030 | 0.667 | 3 | 2015 | 2019 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.120 | 9 | 5440589 | upstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 3 | 188234588 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.120 | 9 | 123762933 | intron variant | A/G | snv | 0.44 | 0.900 | 0.833 | 12 | 2011 | 2019 | ||||
|
8 | 0.790 | 0.200 | 2 | 48751020 | intron variant | A/G | snv | 0.15 | 0.900 | 0.818 | 11 | 2011 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.900 | 10 | 2003 | 2019 | |||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.050 | 0.600 | 5 | 2015 | 2019 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.040 | 0.750 | 4 | 2013 | 2019 | |||
|
1 | 1.000 | 0.120 | 12 | 53423453 | upstream gene variant | A/G | snv | 0.16 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.020 | 0.500 | 2 | 2018 | 2019 |